filamentous growth of a unicellular organism


seed growth

biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


cell elongation involved in imaginal disc-derived wing morphogenesis


filamentous growth of a population of unicellular organisms in response to pH


invasive growth in response to glucose limitation


invasive growth in response to abiotic stimulus


invasive growth in response to biotic stimulus


spongiotrophoblast layer developmental growth


circumferential growth involved in left ventricle morphogenesis


cell growth involved in growth plate cartilage chondrocyte morphogenesis


Broad distal phalanx of the 5th toe

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


Broad proximal phalanx of the 3rd finger


Broad proximal phalanx of the 4th finger


Broad proximal phalanx of the 5th finger


Expanded phalanges with widened medullary cavities


Broad proximal phalanx of the 2nd finger


hemoglobin D disease

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


proximal epiphysis of fifth metacarpal bone

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


negative regulation of convergent extension involved in neural plate elongation


regulation of convergent extension involved in gastrulation


positive regulation of convergent extension involved in notochord morphogenesis


regulation of convergent extension involved in rhombomere morphogenesis


positive regulation of convergent extension involved in somitogenesis


regulation of convergent extension involved in notochord morphogenesis


negative regulation of convergent extension involved in gastrulation


negative regulation of convergent extension involved in somitogenesis


regulation of convergent extension involved in neural plate elongation


regulation of convergent extension involved in somitogenesis


negative regulation of convergent extension involved in notochord morphogenesis


negative regulation of convergent extension involved in rhombomere morphogenesis


positive regulation of convergent extension involved in neural plate elongation


positive regulation of convergent extension involved in gastrulation


positive regulation of convergent extension involved in rhombomere morphogenesis


malignant thyroid stimulating hormone producing neoplasm of pituitary gland


Stage II Acral Lentiginous Melanoma AJCC v6 and v7


positive regulation of calcineurin-mediated signaling


regulation of calcineurin-mediated signaling


negative regulation of calcineurin-mediated signaling


progressive relapsing multiple sclerosis


Cutaneous stenosis of the external auditory canal


negative regulation of metanephric glomerulus development


positive regulation of mesonephric glomerulus development


regulation of mesonephric glomerulus development


negative regulation of mesonephric glomerulus development


Metastatic Malignant Neoplasm to the Thyroid


Secondary malignant neoplasm of parathyroid gland


Metastatic malignant neoplasm to nasopharynx


Metastatic malignant neoplasm to oropharynx


Secondary malignant neoplasm of hypopharynx


Neck Squamous Cell Carcinoma of Unknown Primary


Recurrent Neck Squamous Cell Carcinoma of Unknown Primary


catechol catabolic process, ortho-cleavage


median dorsal digital artery for digit 1


lateral dorsal digital artery for digit 5


Amyotrophy of the musculature of the pelvis


Epithelium of paranasal sinus

biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


Stage IV Major Salivary Gland Carcinoma with Metastasis


cleavage between 5.8S rRNA and 2S rRNA of tetracistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, 2S rRNA, LSU-rRNA)


endonucleolytic cleavage of tetracistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, 2S rRNA, LSU-rRNA)


cleavage between SSU-rRNA and 5.8S rRNA of tetracistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, 2S rRNA, LSU-rRNA)


cleavage between 2S rRNA and LSU-rRNA of tetracistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, 2S rRNA, LSU-rRNA)


Pathologic Stage IVB Gastroesophageal Junction Adenocarcinoma AJCC v8


Gastroesophageal Junction Adenocarcinoma by AJCC v8 Pathologic Stage


Pathologic Stage IIIB Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IIIA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage 0 Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage I Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage II Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage III Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IC Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IVA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IIB Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IV Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IB Gastroesophageal Junction Adenocarcinoma AJCC v8


Refractory High Grade Burkitt-Like Lymphoma


Recurrent High Grade Burkitt-Like Lymphoma


Stage II High Grade Adult Non-Hodgkin's Lymphoma


Stage II High Grade Burkitt-Like Lymphoma


High Grade B-Cell Non-Hodgkin's Lymphoma


Stage I High Grade Burkitt-Like Lymphoma


Recurrent High Grade Adult Non-Hodgkin's Lymphoma


Stage IV High Grade Adult Non-Hodgkin's Lymphoma


Stage IV High Grade Burkitt-Like Lymphoma


Stage III High Grade Adult Non-Hodgkin's Lymphoma


Stage I High Grade Adult Non-Hodgkin's Lymphoma


Stage III High Grade Burkitt-Like Lymphoma


Patchy sclerosis of the proximal phalanx of the 3rd toe


Stage IVB Esophageal Squamous Cell Carcinoma


thalian-diol desaturase activity

biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


collagen type XXVII trimer

biolink:CellularComponent biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


Hodgkin lymphoma, nodular sclerosis, cellular phase


envenomation resulting in induction of edema in another organism


Unresectable Cervical Adenosquamous Carcinoma


vascular associated smooth muscle cell apoptotic process


negative regulation of chromatin organization


negative regulation of heterochromatin organization


negative regulation of silent mating-type cassette heterochromatin formation


negative regulation of heterochromatin formation


negative regulation of small non-coding RNA-mediated heterochromatin formation


negative regulation of endocardial cushion to mesenchymal transition


regulation of endocardial cushion to mesenchymal transition


regulation of endocardial cushion to mesenchymal transition involved in heart valve formation


negative regulation of endocardial cushion to mesenchymal transition involved in heart valve formation


positive regulation of endocardial cushion to mesenchymal transition


positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation


protein-FAD linkage via S-(8alpha-FAD)-L-cysteine


Recurrent Lung Carcinoma Cell Type Unspecified


Recurrent Lung Non-Small Cell Squamous Carcinoma


Recurrent Lung Non-Squamous Non-Small Cell Carcinoma


Adenosquamous cell lung cancer recurrent


Recurrent Extensive Stage Lung Small Cell Carcinoma


negative regulation of prostaglandin secretion


positive regulation of prostaglandin secretion involved in immune response


Non-Neoplastic Chronic Lower Respiratory System Disorder


carnitine:acyl carnitine antiporter activity


vulvar proximal-type epithelioid sarcoma


positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation


Posterior Circulation Intracranial Artery


Decreased renal tubular phosphate excretion


Testicular Diffuse Large B-Cell Lymphoma


Testicular Nasal Type Extranodal NK/T-Cell Lymphoma


CD8-positive, alpha-beta intraepithelial T cell differentiation


Pancreatic Somatostatin-Producing Neuroendocrine Tumor


major salivary gland carcinoma ex pleomorphic adenoma


Recurrent Parotid Gland Adenoid Cystic Carcinoma


Stage IV Major Salivary Gland Carcinoma without Metastasis


Submandibular Gland Squamous Cell Carcinoma


Stage IVC Major Salivary Gland Cancer AJCC v8


Recurrent Submandibular Gland Undifferentiated Carcinoma


mucoepidermoid carcinoma of submandibular gland


Recurrent Submandibular Gland Acinic Cell Carcinoma


Stage III Major Salivary Gland Cancer AJCC v7


Stage IV Major Salivary Gland Cancer AJCC v8


Submandibular Gland Acinic Cell Carcinoma


Submandibular Gland Undifferentiated Carcinoma


Major Salivary Gland Cancer by AJCC v8 Stage


Stage I Major Salivary Gland Cancer AJCC v7


Stage IVA Major Salivary Gland Cancer AJCC v7


Recurrent Submandibular Gland Mucoepidermoid Carcinoma


Recurrent Parotid Gland Carcinoma ex Pleomorphic Adenoma


Stage II Major Salivary Gland Cancer AJCC v8


Stage IVB Major Salivary Gland Cancer AJCC v8


Recurrent Parotid Gland Squamous Cell Carcinoma


Recurrent Submandibular Gland Squamous Cell Carcinoma


Stage IVA Major Salivary Gland Cancer AJCC v8


Stage 0 Major Salivary Gland Cancer AJCC v8


Major Salivary Gland Squamous Cell Carcinoma


Recurrent Parotid Gland Mucoepidermoid Carcinoma


major salivary gland mucoepidermoid carcinoma


Recurrent Parotid Gland Acinic Cell Carcinoma


major salivary gland adenoid cystic carcinoma


Major Salivary Gland Cancer by AJCC v7 Stage


Submandibular Gland Carcinoma ex Pleomorphic Adenoma


Major Salivary Gland Acinic Cell Carcinoma


mucoepidermoid carcinoma of parotid gland


parotid gland carcinoma ex pleomorphic adenoma


Stage IV Major Salivary Gland Cancer AJCC v7


Recurrent Submandibular Gland Carcinoma ex Pleomorphic Adenoma


Stage I Major Salivary Gland Cancer AJCC v8


Parotid Gland Undifferentiated Carcinoma


Recurrent Submandibular Gland Adenoid Cystic Carcinoma


Stage III Major Salivary Gland Cancer AJCC v8


Stage IVC Major Salivary Gland Cancer AJCC v7


Stage II Major Salivary Gland Cancer AJCC v7


Recurrent Parotid Gland Undifferentiated Carcinoma


submandibular gland adenoid cystic carcinoma


Stage IVB Major Salivary Gland Cancer AJCC v7


AIDS-Related Plasmablastic Lymphoma of the Oral Mucosa


AIDS-Related Plasmablastic Lymphoma of Mucosa Site


Plasmablastic Lymphoma of the Oral Mucosa


localized junctional epidermolysis bullosa, non-Herlitz type


junctional epidermolysis bullosa, non-Herlitz type


generalized junctional epidermolysis bullosa non-Herlitz type


Abnormal circulating gastrin concentration


negative regulation of tetrapyrrole catabolic process


negative regulation of chlorophyll catabolic process


negative regulation of telomeric loop formation


positive regulation of ferricrocin biosynthetic process


nuclear proteasome regulatory particle, lid subcomplex


liver inflammatory myofibroblastic tumor


phosphoenolpyruvate carboxykinase deficiency, cytosolic


NK T cell activation involved in immune response


NK T cell proliferation involved in immune response


Epidermal Growth Factor Receptor Inhibitor-Induced Acneiform Lesion


Epstein-Barr virus-associated gastric carcinoma


positive regulation of peripheral B cell anergy


negative regulation of central B cell deletion


negative regulation of central B cell tolerance induction


negative regulation of peripheral B cell anergy


negative regulation of B cell tolerance induction


negative regulation of central B cell anergy


positive regulation of central B cell tolerance induction


regulation of peripheral B cell deletion


positive regulation of central B cell anergy


positive regulation of peripheral B cell deletion


negative regulation of peripheral B cell deletion


regulation of central B cell tolerance induction


positive regulation of central B cell deletion


Low Grade Pancreatic Intraepithelial Neoplasia


Patient-Specific Neoantigen-Positive Malignant Solid Neoplasm


sulfite reductase (coenzyme F420) activity


negative regulation of cellular response to drug


Retinal detachments and defects, unspecified


chromosome 4Q32.1-q32.2 triplication syndrome


partial duplication of the long arm of chromosome 4


tubulointerstitial kidney disease, autosomal dominant, 2


Pauci-Immune Glomerulonephritis - Renal Limited


Chronic kidney disease due to hypertension


Nephrotic Syndrome - Simian Virus 40 Associated


Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease


Nephrotic Syndrome - Human Immunodeficiency Virus Associated


Nephrotic syndrome with lesion of proliferative glomerulonephritis


Congenital Nephrotic Syndrome - Rubivirus Associated


Nephrotic Syndrome - Infection Associated


Nephrotic Syndrome - SMARCAL1 Associated


Glomerulopathy with Fibronectin Deposits-2


Acute renal papillary necrosis with renal failure


Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis


Chronic glomerulonephritis with lesion of membranous glomerulonephritis


Membranous Nephropathy - Autoimmune Disorder Associated


Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis


Systemic Lupus Erythematosus Nephritis Class V


Chronic Kidney Disease due to Diabetes Mellitus


Chemotherapeutic Drug - Induced Nephropathy


Nephrotic Syndrome with Lesion of Persistent Glomerulonephritis


Systemic Lupus Erythematosus Nephritis Class IV G


Nephrotic Syndrome - ARHGAP24 Associated


Calcineurin Inhibitor - Induced Nephropathy


Congenital Nephrotic Syndrome - Cytomegalovirus Associated


Light Chain Proximal Tubulopathy without Crystals


familial juvenile hyperuricemic nephropathy type 1


Nephrotic Syndrome - Toxoplasmosis Associated


Nephrotic Syndrome - Syphilis Associated


C3 Glomerulopathy with Monoclonal Gammopathy


Systemic Lupus Erythematosus Nephritis Class IV S


Congenital Nephrotic Syndrome - Toxoplasma Associated


Membranous Nephropathy - Malignancy Associated


Nephrotic Syndrome with Lesion of Membranous Glomerulonephritis


Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis


autosomal dominant polycystic kidney disease


Nephrotic Syndrome - Frequently Relapsing


Nephrotic Syndrome - Infrequently Relapsing


Nephrotic Syndrome - Hepatitis B Virus Associated


nephrotic syndrome of childhood - steroid sensitive


Nephropathy Associated with Rhabdomyolysis


Primary Focal Segmental Glomerulosclerosis


autosomal recessive polycystic kidney disease


Nephrotic Syndrome - Cytomegalovirus Associated


Secondary focal segmental glomerulosclerosis


Congenital Nephrotic Syndrome - Treponema Pallidum Associated


Focal Segmental Glomerulosclerosis Collapsing Variant


Focal Segmental Glomerulosclerosis Cellular Variant


Membranous Nephropathy - Drug Associated


Focal AND segmental proliferative glomerulonephritis


Chronic glomerulonephritis with lesion of proliferative glomerulonephritis


Proliferative Glomerulonephritis with Monoclonal IgG Deposits


Nephrotic Syndrome with Lesion of Hypocomplementemic Glomerulonephritis


IgA nephropathy associated with liver disease


Nephrotic Syndrome - Parvovirus B19 Associated


Nephrotic Syndrome - Epstein-Barr Virus Associated


congenital nephrotic syndrome, Finnish type


Pauci-Immune Glomerulonephritis - ANCA Negative


Nephrotic Syndrome-Remission, Partial Remission


Nephrotic Syndrome - Hepatitis C Virus Associated


Focal Segmental Glomerulosclerosis, Not Otherwise Specified


Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis


Congenital Nephrotic Syndrome - Infection Associated


Type I Cryoglobulinemic Glomerulonephritis


Focal Segmental Glomerulosclerosis Tip Lesion Variant


Focal Segmental Glomerulosclerosis Perihilar Variant


Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis


Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis


Nephrotic Syndrome with Lesion of Segmental Hyalinosis


phagosome-lysosome fusion involved in apoptotic cell clearance


negative regulation of asexual sporulation resulting in formation of a cellular spore


negative regulation of aplanospore formation


negative regulation of aeciospore formation


negative regulation of uredospore formation


negative regulation of zoospore formation


negative regulation of sporangiospore formation


negative regulation of teliospore formation


D-glycero-D-manno-heptose 7-phosphate biosynthetic process


sessile serrated polyposis cancer syndrome


squamous cell carcinoma of buccal mucosa


extrahepatic bile duct adenosquamous carcinoma


nodular regenerative hyperplasia of the liver


carcinoma of esophagus, salivary gland type


pancreatic delta cell neuroendocrine tumor


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome


hereditary neuroendocrine tumor of small intestine


small intestinal neuroendocrine tumor G1


classic neuroendocrine tumor of appendix


diabetes mellitus, noninsulin-dependent, 5


carcinoma of stomach, salivary gland type


cholestasis, progressive familial intrahepatic, 6


digestive system neuroendocrine tumor, grade 1/2


pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia


pancreatic acinar cell cystadenocarcinoma


maturity-onset diabetes of the young type 14


maturity-onset diabetes of the young type 9


autoimmune disorder of gastrointestinal tract


acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome


pyloric stenosis, infantile hypertrophic, 1


breast mucosa-associated lymphoid tissue lymphoma


colorectal cancer, hereditary nonpolyposis, type 5


diarrhea 10, protein-losing enteropathy type


congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome


malignant neoplasm of thoracic esophagus


short fifth metacarpals-insulin resistance syndrome


colon small cell neuroendocrine carcinoma


congenital enterocyte heparan sulfate deficiency


carcinoma of liver and intrahepatic biliary tract


calcifying nested epithelial stromal tumor of the liver


polycystic liver disease 3 with or without kidney cysts


VACTERL association, X-linked, with or without hydrocephalus


primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome


diabetes mellitus, noninsulin-dependent, 3


extrahepatic bile duct papillary adenoma


colorectal gastrointestinal stromal tumor


perinatal jaundice due to hepatocellular damage


Hirschsprung disease-nail hypoplasia-dysmorphism syndrome


intractable diarrhea-choanal atresia-eye anomalies syndrome


functional pancreatic neuroendocrine tumor


autosomal recessive hyperinsulinism due to Kir6.2 deficiency


extrahepatic bile duct small cell adenocarcinoma


solid pseudopapillary neoplasm of the pancreas


hyperinsulinism due to glucokinase deficiency


papillary extrahepatic bile duct adenocarcinoma


ampulla of vater clear cell adenocarcinoma


gallbladder pleomorphic giant cell adenocarcinoma


cystic fibrosis associated meconium ileus


maturity-onset diabetes of the young type 1


growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy


cholestasis, progressive familial intrahepatic, 9


adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia


squamous cell carcinoma of the oral tongue


submucosal invasive colon adenocarcinoma


disorder of lipid absorption and transport


congenital sucrase-isomaltase deficiency without sucrose intolerance


small intestinal diffuse large B-cell lymphoma


Rokitansky-Aschoff sinuses of the gallbladder


neuroendocrine tumor of rectum, well differentiated, low or intermediate grade


AXIN2-related attenuated familial adenomatous polyposis


biliary atresia intrahepatic non syndromic form


visceral neuropathy, familial, 1, autosomal recessive


non-functional pancreatic neuroendocrine tumor


idiopathic malabsorption due to bile acid synthesis defects


thiamine-responsive megaloblastic anemia syndrome


adenocarcinoma of gallbladder and extrahepatic biliary tract


ampullary signet ring cell adenocarcinoma


syndromic multisystem autoimmune disease due to ITCH deficiency


hyperinsulinemic hypoglycemia, familial, 2


MSH3-related attenuated familial adenomatous polyposis


pancreatic triacylglycerol lipase deficiency


extrahepatic bile duct mucinous adenocarcinoma


congenital generalized lipodystrophy type 4


congenital secretory chloride diarrhea 1


combined immunodeficiency due to LRBA deficiency


polycystic liver disease 4 with or without kidney cysts


salivary gland basal cell adenocarcinoma


cholestasis, progressive familial intrahepatic, 10


combined pancreatic lipase-colipase deficiency


squamous cell carcinoma of floor of mouth


maturity-onset diabetes of the young type 7


early-onset familial noncirrhotic portal hypertension


embryonal extrahepatic bile duct rhabdomyosarcoma


Hirschsprung disease-type D brachydactyly syndrome


congenital sucrase-isomaltase deficiency with starch intolerance


megacystis-microcolon-intestinal hypoperistalsis syndrome 4


pancreatic non-functioning delta cell tumor


pyloric stenosis, infantile hypertrophic, 5


gallbladder signet ring cell adenocarcinoma


colon mucosa-associated lymphoid tissue lymphoma


metastasis from malignant tumor of colon


undifferentiated embryonal sarcoma of the liver


cryptogenic multifocal ulcerous stenosing enteritis


extrahepatic bile duct clear cell adenocarcinoma


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade


inflammatory skin and bowel disease, neonatal, 2


diarrheal disease secondary to altered bowel motility


gastric enterochromaffin cell serotonin-producing neuroendocrine tumor


thyroid gland mucosa-associated lymphoid tissue lymphoma


colonic L-cell glucagon-like peptide producing tumor


maturity-onset diabetes of the young type 8


carcinoma of gallbladder and extrahepatic biliary tract


maturity-onset diabetes of the young type 10


pancreatic hypoplasia-diabetes-congenital heart disease syndrome


cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


TRIM22-related inflammatory bowel disease


progressive encephalomyelitis with rigidity and myoclonus


malignant neoplasm of cervical esophagus


maxillary sinus adenoid cystic carcinoma


IL21-related infantile inflammatory bowel disease


diabetes mellitus, transient neonatal, 2


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


cholestasis, progressive familial intrahepatic, 11


cholestasis, progressive familial intrahepatic, 4


classic or attenuated familial adenomatous polyposis


cholestasis, intrahepatic, of pregnancy, 3


splenic diffuse red pulp small B-cell lymphoma


carcinoma in situ of extrahepatic bile duct


ileal neuroendocrine tumor, well differentiated, low or intermediate grade


diarrheal disease secondary to increased bowel motility


pyloric stenosis, infantile hypertrophic, 2


neonatal ichthyosis-sclerosing cholangitis syndrome


small intestinal mucosa-associated lymphoid tissue lymphoma


glycogen storage disease due to liver phosphorylase kinase deficiency


nephropathy, progressive tubulointerstitial, with cholestatic liver disease


pancreatic ACTH-producing neuroendocrine tumor


congenital enteropathy involving intestinal mucosa development


benign recurrent intrahepatic cholestasis type 2


colorectal cancer, hereditary nonpolyposis, type 6


maturity-onset diabetes of the young type 11


Alagille syndrome due to a JAG1 point mutation


squamous cell carcinoma of gallbladder and extrahepatic biliary tract


megacystis-microcolon-intestinal hypoperistalsis syndrome 2


Alagille syndrome due to a NOTCH2 point mutation


colorectal cancer, hereditary nonpolyposis, type 8


ampulla of vater squamous cell carcinoma


transient infantile hypertriglyceridemia and hepatosteatosis


cholestasis, intrahepatic, of pregnancy, 1


minor salivary gland adenoid cystic carcinoma


chronic intestinal vascular insufficiency


Plasmodium falciparum fever episodes quantitative trait locus 1


salivary gland epithelial myoepithelial carcinoma


pancreatic carcinoma with mixed differentiation


jejunal neuroendocrine tumor, well differentiated, low or intermediate grade


ampulla of vater small cell neuroendocrine carcinoma


undifferentiated pancreatic carcinoma with osteoclast-like giant cells


pyloric stenosis, infantile hypertrophic, 3


autosomal dominant hyperinsulinism due to SUR1 deficiency


hepatic veno-occlusive disease-immunodeficiency syndrome


sublingual gland adenoid cystic carcinoma


pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia


growth retardation-mild developmental delay-chronic hepatitis syndrome


generalized juvenile polyposis/juvenile polyposis coli


colorectal cancer, hereditary nonpolyposis, type 2


small intestinal L-cell glucagon-like peptide producing tumor


congenital sucrase-isomaltase deficiency with minimal starch tolerance


familial gastric type 1 neuroendocrine tumor


colorectal sessile serrated adenoma/polyp


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor


splenic manifestation of hairy cell leukemia


maturity-onset diabetes of the young type 3


colorectal cancer, hereditary nonpolyposis, type 4


palmoplantar keratoderma-esophageal carcinoma syndrome


multisystemic smooth muscle dysfunction syndrome


progressive familial intrahepatic cholestasis type 1


colorectal diffuse large B-cell lymphoma


digestive system mixed adenoneuroendocrine carcinoma


pancreatic insulin-producing neuroendocrine tumor


immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome


duodenal gastrin-producing neuroendocrine tumor


APC-related attenuated familial adenomatous polyposis


megacystis-microcolon-intestinal hypoperistalsis syndrome 1


extrahepatic bile duct squamous cell carcinoma


L-cell glucagon-like peptide-producing neuroendocrine tumor


hyperinsulinemic hypoglycemia, familial, 4


malignant neoplasm of abdominal esophagus


diabetes mellitus, transient neonatal, 1


malignant tumor of extrahepatic bile duct


maturity-onset diabetes of the young type 2


cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


cystic fibrosis-gastritis-megaloblastic anemia syndrome


maturity-onset diabetes of the young type 13


fibrohistiocytic inflammatory pseudotumor of the liver


digestive system neuroendocrine neoplasm


intrahepatic bile duct adenosquamous carcinoma


isolated neonatal sclerosing cholangitis


progressive familial intrahepatic cholestasis type 2


pancreatic intraductal papillary-mucinous neoplasm


autosomal recessive hyperinsulinism due to SUR1 deficiency


PLIN1-related familial partial lipodystrophy


small intestinal enteropathy-associated T-cell lymphoma


cholestasis, progressive familial intrahepatic, 5


inflammatory skin and bowel disease, neonatal, 1


maternally-inherited diabetes and deafness


Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young


diabetes mellitus, noninsulin-dependent, 4


cholestasis, progressive familial intrahepatic, 8


gastric neuroendocrine tumor, well differentiated, low or intermediate grade


squamous cell carcinoma of the small intestine


gallbladder small cell neuroendocrine carcinoma


visceral neuropathy, familial, 3, autosomal dominant


solid pseudopapillary carcinoma of pancreas


lymphoplasmacytic inflammatory pseudotumor of the liver


progressive familial intrahepatic cholestasis


pyloric stenosis, infantile hypertrophic, 4


signet ring cell intrahepatic cholangiocarcinoma


Polymerase proofreading-related adenomatous polyposis


attenuated familial adenomatous polyposis


gastric small cell neuroendocrine carcinoma


diarrheal disease secondary to decreased bowel motility


extrahepatic bile duct signet ring cell carcinoma


gallbladder neuroendocrine tumor, grade 1/2


small intestine neuroendocrine tumor, well differentiated, low or intermediate grade


neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade


pancreatic lipomatosis duodenal stenosis


pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma


familial adenomatous polyposis due to 5q22.2 microdeletion


maturity-onset diabetes of the young type 6


chronic enteropathy associated with SLCO2A1 gene


autosomal dominant hyperinsulinism due to Kir6.2 deficiency


chronic atrial and intestinal dysrhythmia


adenocarcinoma of liver and intrahepatic biliary tract


ampulla of vater adenosquamous carcinoma


Hirschsprung disease-hearing loss-polydactyly syndrome


juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


short stature, microcephaly, and endocrine dysfunction


mixed fibrolamellar hepatocellular carcinoma


progressive familial intrahepatic cholestasis type 3


transient familial neonatal hyperbilirubinemia


congenital diarrhea 7 with exudative enteropathy


congenital diarrhea 5 with tufting enteropathy


diffuse cavernous hemangioma of the rectum


congenital enteropathy due to enteropeptidase deficiency


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked


pancreatic non-invasive mucinous cystadenocarcinoma


low phospholipid associated cholelithiasis


gastric mucosa-associated lymphoid tissue lymphoma


appendix L-cell glucagon-like peptide-producing neuroendocrine tumor


pancreatic small cell neuroendocrine carcinoma


pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma


ampulla of vater mucinous adenocarcinoma


intestinal disease due to fat malabsorption


pancreatic vasoactive intestinal peptide producing tumor


gallbladder papillary neoplasm with an associated invasive carcinoma


salivary gland carcinoma ex pleomorphic adenoma


autosomal semi-dominant severe lipodystrophic laminopathy


small intestinal vasoactive intestinal peptide producing tumor


splenic manifestation of prolymphocytic leukemia


megacystis-microcolon-intestinal hypoperistalsis syndrome 3


intraductal tubulopapillary neoplasm of pancreas


displacement of cardia through esophageal hiatus


diabetes mellitus, noninsulin-dependent, 2


aplasia cutis congenita-intestinal lymphangiectasia syndrome


pancreatic large cell neuroendocrine carcinoma


acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome


colorectal cancer, hereditary nonpolyposis, type 7


MYO5B-related progressive familial intrahepatic cholestasis


autosomal dominant polycystic liver disease


congenital sucrase-isomaltase deficiency without starch intolerance


pancreatic signet ring cell adenocarcinoma


combined hepatocellular carcinoma and cholangiocarcinoma


bile duct mucinous cystic neoplasm with an associated invasive carcinoma


diabetes mellitus, noninsulin-dependent, 1


diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency


food protein-induced allergic proctocolitis


Moyamoya disease with early-onset achalasia


extrahepatic bile duct mucoepidermoid carcinoma


congenital sucrase-isomaltase deficiency with starch and lactose intolerance


neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor


intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome


intestinal disease due to vitamin absorption anomaly


neonatal diabetes mellitus with congenital hypothyroidism


inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive


neonatal inflammatory skin and bowel disease


gallbladder biliary intraepithelial neoplasia


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


squamous cell carcinoma of liver and intrahepatic biliary tract


mixed ductal-endocrine carcinoma of pancreas


porphyria due to ALA dehydratase deficiency


osteoclastic giant cell tumor of pancreas


intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency


proton-pump inhibitor-responsive esophageal eosinophilia


diabetes mellitus, transient neonatal, 3


hereditary diffuse gastric adenocarcinoma


gastric gastrin-producing neuroendocrine tumor


chronic diarrhea due to glucoamylase deficiency


biliary atresia intrahepatic syndromic form


pancreatic intraductal papillary-mucinous carcinoma


intrauterine growth restriction-short stature-early adult-onset diabetes syndrome


benign recurrent intrahepatic cholestasis type 1


hereditary North American Indian childhood cirrhosis


microcephalic primordial dwarfism-insulin resistance syndrome


maturity-onset diabetes of the young type 4


primary microcephaly-mild intellectual disability-young-onset diabetes syndrome


Alagille syndrome due to 20p12 microdeletion


undifferentiated carcinoma of liver and intrahepatic biliary tract


small intestinal intraepithelial neoplasia


cutaneous photosensitivity-lethal colitis syndrome


megacystis-microcolon-intestinal hypoperistalsis syndrome 5


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins


benign recurrent intrahepatic cholestasis


Lugano Classification Stage IV Adult Non-Hodgkin Lymphoma AJCC v8


benign peripheral nerve granular cell tumor


attachment of spindle microtubules to kinetochore involved in meiotic sister chromatid segregation


homologous chromosome orientation involved in meiotic metaphase I plate congression


negative regulation of transcription involved in G2/M transition of mitotic cell cycle


spindle assembly involved in male meiosis I


metaphase/anaphase transition of meiosis II


establishment of meiotic spindle orientation


meiotic attachment of telomeric heterochromatin to spindle pole body


meiotic telomere maintenance via semi-conservative replication


regulation of syncytial blastoderm mitotic cell cycle


astral microtubule anchoring at mitotic spindle pole body


cell plate formation involved in plant-type cell wall biogenesis


maintenance of meiotic sister chromatid cohesion, arms


centromere clustering at the mitotic interphase nuclear envelope


mitotic cohesin ssDNA (lagging strand) loading


bacterial-type DNA replication termination


maintenance of actomyosin contractile ring localization


DNA strand elongation involved in premeiotic DNA replication


mitotic cohesin dsDNA (leading strand) loading


mitotic contractile ring actin filament bundle assembly


meiotic G2/MI DNA replication checkpoint signaling

biolink:Pathway biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


synthesis of RNA primer involved in premeiotic DNA replication


cell cycle switching, mitotic to meiotic cell cycle


mitotic sister chromatid cohesion, centromeric


mitotic pre-replicative complex assembly


meiotic strand displacement involved in double-strand break repair via SDSA


microtubule bundle formation involved in horsetail-astral microtubule organization


bacterial-type DNA replication DNA ligation


DNA strand elongation involved in mitotic DNA replication


positive regulation of transcription involved in G2/M transition of mitotic cell cycle


actomyosin contractile ring actin filament bundle assembly


meiotic DNA recombinase assembly involved in reciprocal meiotic recombination


attachment of telomeric heterochromatin to nuclear envelope


sister chromosome movement towards spindle pole involved in meiotic sister chromatid segregation


meiotic sister chromatid cohesion involved in meiosis I


meiotic sister chromatid centromere separation


maintenance of mitotic sister chromatid cohesion, centromeric


DNA strand elongation involved in cell cycle DNA replication


regulation of monopolar spindle attachment to meiosis I kinetochore


meiotic DNA recombinase assembly involved in meiotic gene conversion


positive regulation of mitotic actomyosin contractile ring contraction


microtubule anchoring at spindle pole body


germline cell cycle switching, mitotic to meiotic cell cycle


meiotic DNA double-strand break processing involved in reciprocal meiotic recombination


ascospore wall (1->3)-beta-D-glucan biosynthetic process


actin filament reorganization involved in cell cycle


meiotic DNA repair synthesis involved in reciprocal meiotic recombination


positive regulation of mitotic sister chromatid biorientation


mitotic G2 cell size control checkpoint signaling


Okazaki fragment processing involved in mitotic DNA replication


mitotic spindle formation (spindle phase two)


monopolar spindle attachment to meiosis I kinetochore


spindle assembly involved in male meiosis II


negative regulation of syncytial blastoderm mitotic cell cycle


cellular bud neck septin ring organization


regulation of transcription involved in G2/M transition of mitotic cell cycle


maintenance of mitotic sister chromatid cohesion, arms


maintenance of protein location to spindle pole body


meiotic spindle formation (spindle phase two)


meiotic sister chromatid cohesion involved in meiosis II


actin filament polymerization involved in mitotic actomyosin contractile ring assembly


mitotic DNA replication preinitiation complex assembly


maintenance of mitotic sister chromatid cohesion, telomeric


positive regulation of transcription involved in exit from mitosis


mitotic DNA replication lagging strand elongation


metaphase/anaphase transition of meiotic cell cycle


meiotic DNA double-strand break processing


subnuclear spatial organization of silent mating-type cassette heterochromatin


removal of RNA primer involved in mitotic DNA replication


meiotic DNA double-strand break resectioning


DNA synthesis involved in mitotic DNA replication


early meiotic recombination nodule assembly


mitotic actomyosin contractile ring maintenance


ascospore-type prospore membrane formation


ascospore-type prospore-specific spindle pole body remodeling


positive regulation of monopolar spindle attachment to meiosis I kinetochore


kinetochore disassembly involved in meiotic chromosome organization


ascospore wall beta-glucan metabolic process


protein localization to mitotic actomyosin contractile ring


mitotic G1 cell size control checkpoint signaling


homologous chromosome movement towards spindle pole in meiosis I anaphase


synthesis of RNA primer involved in cell cycle DNA replication


extracellular polysaccharide catabolic process involved in ascospore release from ascus


attachment of spindle microtubules to kinetochore involved in meiotic chromosome segregation


negative regulation of mitotic actomyosin contractile ring contraction


nuclear DNA replication DNA duplex unwinding


bacterial-type DNA replication initiation


mitotic spindle orientation checkpoint signaling


alpha-glucan catabolic process involved in ascospore release from ascus


ascospore wall (1->3)-beta-D-glucan metabolic process


initial meiotic spindle pole body separation


cell cycle DNA replication maintenance of fidelity


establishment of meiotic sister chromatid cohesion


meiotic mismatch repair involved in reciprocal meiotic recombination


regulation of mitotic actomyosin contractile ring contraction


positive regulation of transcription involved in exit from mitosis, from RNA polymerase III promoter


regulation of actomyosin contractile ring contraction


pre-replicative complex assembly involved in premeiotic DNA replication


vesicle fusion with nuclear membrane involved in mitotic nuclear envelope reassembly


maintenance of meiotic sister chromatid cohesion


mitotic nuclear pore complex disassembly


pre-replicative complex assembly involved in cell cycle DNA replication


mitotic cell size control checkpoint signaling


synthesis of RNA primer involved in nuclear cell cycle DNA replication


ascospore wall beta-glucan biosynthetic process


initial mitotic spindle pole body separation


lateral attachment of mitotic spindle microtubules to kinetochore


ascospore wall chitin biosynthetic process


mitotic DNA replication DNA duplex unwinding


meiotic DNA double-strand break formation involved in meiotic gene conversion


microtubule anchoring at mitotic spindle pole body


meiotic strand invasion involved in meiotic gene conversion


pre-replicative complex assembly involved in bacterial-type DNA replication


double-strand break repair involved in meiotic recombination


nuclear cell cycle DNA replication initiation


meiotic mismatch repair involved in meiotic gene conversion


actomyosin contractile ring localization


premeiotic DNA replication preinitiation complex assembly


microtubule plus-end directed mitotic chromosome migration


response to meiotic recombination checkpoint signaling


meiotic spindle assembly checkpoint signaling


male meiotic chromosome movement towards spindle pole


DNA replication preinitiation complex assembly


actin filament bundle convergence involved in mitotic contractile ring assembly


mitotic spindle pole body insertion into the nuclear envelope


cell cycle DNA replication DNA unwinding


spindle assembly involved in male meiosis


centromere detachment from spindle pole body involved in meiotic chromosome organization


assembly of actomyosin apparatus involved in mitotic cytokinesis


meiotic DNA double-strand break clipping


mitotic actomyosin contractile ring contraction


mitotic spindle formation (spindle phase one)


astral spindle assembly involved in male meiosis


mitotic sister chromatid cohesion, telomeric


establishment of mitotic spindle asymmetry


assembly of actomyosin apparatus involved in cytokinesis


synthesis of RNA primer involved in bacterial-type DNA replication


positive regulation of transcription involved in exit from mitosis, from RNA polymerase II promoter


spindle assembly involved in female meiosis II


late meiotic recombination nodule assembly


premeiotic DNA replication DNA duplex unwinding


establishment of mitotic spindle orientation involved in growth plate cartilage chondrocyte division


mitotic cytokinesis checkpoint signaling


positive regulation of syncytial blastoderm mitotic cell cycle


protein localization to cell division site involved in mitotic actomyosin contractile ring assembly


mitotic DNA replication leading strand elongation


microtubule cytoskeleton organization involved in homologous chromosome segregation


establishment of actomyosin contractile ring localization


maintenance of meiotic sister chromatid cohesion, centromeric


actomyosin contractile ring assembly actin filament bundle convergence


membrane addition at site of mitotic cytokinesis


meiotic cell cycle process involved in oocyte maturation


positive regulation of transcription involved in exit from mitosis, from RNA polymerase I promoter


mitotic DNA replication maintenance of fidelity


bacterial-type DNA replication DNA duplex unwinding


pre-replicative complex assembly involved in nuclear cell cycle DNA replication


female meiotic chromosome movement towards spindle pole


anastral spindle assembly involved in male meiosis


mitotic spindle elongation (spindle phase three)


meiotic DNA double-strand break processing involved in meiotic gene conversion


signal transduction involved in cytokinesis checkpoint


establishment of mitotic sister chromatid cohesion


synthesis of RNA primer involved in mitotic DNA replication


actomyosin contractile ring assembly actin filament organization


DNA double-strand break attachment to nuclear envelope


membrane addition at site of cytokinesis


protein localization to meiotic spindle pole body


microtubule bundle formation involved in mitotic spindle midzone assembly


mitotic actomyosin contractile ring assembly actin filament organization


DNA strand elongation involved in nuclear cell cycle DNA replication


zygote asymmetric cytokinesis in embryo sac


re-entry into mitotic cell cycle after pheromone arrest


establishment of mitotic actomyosin contractile ring localization


metaphase/anaphase transition of meiosis I


mitotic actomyosin contractile ring localization


meiotic DNA double-strand break formation involved in reciprocal meiotic recombination


meiosis I spindle assembly checkpoint signaling


meiotic strand invasion involved in reciprocal meiotic recombination


mitotic chromosome centromere condensation


meiotic DNA repair synthesis involved in meiotic gene conversion


mitotic morphogenesis checkpoint signaling


repair of mitotic kinetochore microtubule attachment defect


mitotic actomyosin contractile ring assembly


actomyosin contractile ring organization


mitotic actomyosin contractile ring disassembly


Decreased circulating calcifediol concentration


Infant-Type Hemispheric Glioma, ROS1-Altered


peptidyl-lysine dihydroxylation to 4,5-dihydroxy-L-lysine


peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine


peptidyl-lysine hydroxylation involved in bacterial-type EF-P lysine modification


peptidyl-N6,N6,N6-trimethyl-lysine hydroxylation to peptidyl-N6,N6,N6-trimethyl-5-hydroxy-L-lysine


peptidyl-lysine hydroxylation to 4-hydroxy-L-lysine


Immature PIT1 Lineage Pituitary Neuroendocrine Tumor


Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation


Locally Advanced Pituitary Neuroendocrine Tumor


Pituitary Neuroendocrine Tumor of PIT1-Lineage


Pituitary Neuroendocrine Tumor of SF1-Lineage


Pituitary Neuroendocrine Tumor, Not Otherwise Specified


growth hormone-producing pituitary gland adenoma


Plurimorphous Plurihormonal Pituitary Gland Adenoma


Densely Granulated Non-Functioning Corticotroph Adenoma


ACTH-producing pituitary gland carcinoma


Non-Functioning Pituitary Gland Macroadenoma


mixed somatotroph-lactotroph pituitary gland adenoma


Functioning Pituitary Gland Macroadenoma


Functioning Pituitary Gland Microadenoma


Recurrent Anterior Pituitary Gland Neoplasm


prolactin-producing pituitary gland carcinoma


growth hormone-producing pituitary gland carcinoma


Monomorphous Plurihormonal Pituitary Gland Adenoma


Acidophil Stem Cell Pituitary Gland Adenoma


Non-Functioning Pituitary Gland Microadenoma


Pituitary Neuroendocrine Tumor of TPIT-Lineage


Unresectable Metastatic Pituitary Neuroendocrine Tumor


Mature Plurihormonal PIT1 Lineage Pituitary Neuroendocrine Tumor


Sparsely Granulated Corticotroph Adenoma


Sparsely Granulated Non-Functioning Corticotroph Adenoma


Pituitary Gland Mixed Gangliocytoma-Adenoma


unexplained long-lasting fever/inflammatory syndrome


Fractured proximal epiphysis of first metacarpal bone


Recurrent Paget Disease of the Anal Canal


MHC class II protein binding, via antigen binding groove


Stage II Renal Pelvis and Ureter Cancer AJCC v7


Duane retraction syndrome 3 with or without deafness


moderately-differentiated thymic neuroendocrine carcinoma


hereditary clear cell renal cell carcinoma


female breast lower-outer quadrant cancer


ovarian large-cell neuroendocrine carcinoma


thyroid gland atypical follicular adenoma


oxyphilic endometrial endometrioid adenocarcinoma


cervical large cell neuroendocrine carcinoma


endometrial endometrioid adenocarcinoma with spindled epithelial cells


uterine ligament clear cell adenocarcinoma


endocervical type cervical mucinous adenocarcinoma


non-keratinizing sinonasal squamous cell carcinoma


hypercalcemic type ovarian small cell carcinoma


adenoid basal carcinoma of the cervix uteri


infiltrating renal pelvis/ureter urothelial carcinoma


pulmonary type ovarian small cell carcinoma


ovarian serous surface papillary adenocarcinoma


hereditary papillary renal cell carcinoma


primary intraosseous squamous cell carcinoma


Bartholin gland transitional cell carcinoma


urinary bladder small cell neuroendocrine carcinoma


mucin-rich endometrial endometrioid adenocarcinoma


cervical squamous intraepithelial neoplasia


pituitary gland mixed eosinophil-basophil adenoma


nasal cavity and paranasal sinus squamous cell carcinoma


infiltrating ureter transitional cell carcinoma


partially involuting congenital hemangioma


large cell keratinizing variant squamous cell breast carcinoma


skin fibroepithelial basal cell carcinoma


aggressive digital papillary adenocarcinoma


osteosarcoma arising in bone Paget disease


non-invasive verrucous carcinoma of the penis


adenoid cystic carcinoma of the corpus uteri


paranasal sinus adenoid cystic carcinoma


non-invasive bladder urothelial carcinoma


breast large cell neuroendocrine carcinoma


cervical keratinizing squamous cell carcinoma


squamous cell carcinoma of the corpus uteri


cortisol-producing adrenal cortex adenoma


sarcomatoid penile squamous cell carcinoma


acquired cystic disease-associated renal cell carcinoma


Bartholin gland adenoid cystic carcinoma


estrogen-receptor positive breast cancer


well-differentiated thymic neuroendocrine carcinoma


arteriovenous malformations of the brain


fallopian tube clear cell adenocarcinoma


bladder diffuse clear cell adenocarcinoma


female breast lower-inner quadrant cancer


carcinoma arising in nasal papillomatosis


villoglandular endometrial endometrioid adenocarcinoma


aldosterone-producing adrenal cortex adenoma


thymic large cell neuroendocrine carcinoma


superficial multifocal basal cell carcinoma


acantholytic variant squamous cell breast carcinoma


human papillomavirus-related squamous cell carcinoma


lacrimal gland carcinoma ex pleomorphic adenoma


pseudovascular skin squamous cell carcinoma


acantholytic squamous cell skin carcinoma


non-invasive bladder papillary urothelial neoplasm


progesterone-receptor negative breast cancer


female breast upper-inner quadrant cancer


thyroid carcinoma, nonmedullary, with or without cell oxyphilia


fallopian tube transitional cell carcinoma


primary peritoneal serous adenocarcinoma


sarcomatoid squamous cell skin carcinoma


angioma serpiginosum, autosomal dominant


transitional cell carcinoma of the corpus uteri


growth hormone-producing pituitary gland neoplasm


low grade vulvar intraepithelial neoplasia


renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions


fallopian tube gestational choriocarcinoma


microinvasive cervical squamous cell carcinoma


intraductal cribriform breast adenocarcinoma


mixed lobular and ductal breast carcinoma


non-papillary transitional cell carcinoma of the bladder


familial papillary thyroid carcinoma with renal papillary neoplasia


MIT family translocation renal cell carcinoma


sex hormone-producing adrenal cortex adenoma


vulvar keratinizing squamous cell carcinoma


cerebrofacial arteriovenous metameric syndrome type 3


progesterone-receptor positive breast cancer


clear cell papillary renal cell carcinoma


primary peritoneal serous/papillary carcinoma


kidney pelvis sarcomatoid transitional cell carcinoma


uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease


estrogen-receptor negative breast cancer


cervical non-keratinizing squamous cell carcinoma


infiltrating renal pelvis transitional cell carcinoma


glycogen-rich clear cell breast carcinoma


poorly differentiated thymic neuroendocrine carcinoma


breast carcinoma by gene expression profile


pituitary adenoma, growth hormone-secreting, 2


ovarian clear cell malignant adenofibroma


cerebrofacial arteriovenous metameric syndrome type 1


fallopian tube endometrioid adenocarcinoma


urinary tract non-invasive transitional cell neoplasm


multilocular clear cell renal cell carcinoma


classic variant of chromophobe renal cell carcinoma


cervical adenosquamous carcinoma, glassy cell variant


human papillomavirus-related penile squamous cell carcinoma


spindle cell variant squamous cell breast carcinoma


growth hormone secreting pituitary adenoma 1


thyroid gland papillary and follicular carcinoma


ovarian endometrioid adenocarcinoma with squamous differentiation


extraovarian Brenner tumor of the vagina


vulvar non-keratinizing squamous cell carcinoma


bladder tubulo-cystic clear cell adenocarcinoma


uterine ligament mucinous adenocarcinoma


acinar prostate adenocarcinoma, foamy gland variant


intestinal variant cervical mucinous adenocarcinoma


malignant adrenal gland pheochromocytoma


nasal cavity and paranasal sinus carcinoma


infantile hemangioma of rare localization


primary intraosseous venous malformation


acinar prostate adenocarcinoma, signet ring variant


lymphedema-posterior choanal atresia syndrome


mixed epithelial/mesenchymal metaplastic breast carcinoma


secretory uterine corpus endometrioid adenocarcinoma


grade III prostatic intraepithelial neoplasia


dermal unilateral segmental cavernous angioma


undifferentiated carcinoma of the corpus uteri


cerebrofacial arteriovenous metameric syndrome


cervical mucinous adenocarcinoma, minimal deviation variant


nasopharyngeal type undifferentiated carcinoma


renal cell carcinoma associated with neuroblastoma


renal pelvis papillary urothelial carcinoma


signet ring cell variant cervical mucinous adenocarcinoma


female breast upper-outer quadrant cancer


renal pelvis/ureter urothelial carcinoma


bladder papillary clear cell adenocarcinoma


paranasal sinus mucoepidermoid carcinoma


ductal breast carcinoma in situ and lobular carcinoma in situ


metastatic carcinoma in the adrenal medulla


childhood adrenal gland pheochromocytoma


mucinous tubular and spindle renal cell carcinoma


normal breast-like subtype of breast carcinoma


eosinophilic variant of chromophobe renal cell carcinoma


lip and oral cavity squamous cell carcinoma


uterine ligament endometrioid adenocarcinoma


rapidly involuting congenital hemangioma


regulation of glucocorticoid catabolic process


positive regulation of glucocorticoid metabolic process


positive regulation of glucocorticoid biosynthetic process


positive regulation of cortisol biosynthetic process


negative regulation of glucocorticoid catabolic process


positive regulation of glucocorticoid catabolic process


Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis


male courtship behavior, veined wing extension


negative regulation of female receptivity, post-mating


male courtship behavior, proboscis-mediated licking


male courtship behavior, veined wing generated song production


male courtship behavior, tapping to detect pheromone


positive regulation of female receptivity, post-mating


male courtship behavior, orientation prior to leg tapping and wing vibration


male courtship behavior, veined wing vibration


regulation of female receptivity, post-mating


granulocyte colony-stimulating factor binding


Pseudoepiphysis of the proximal phalanx of the 4th toe


cellular response to 17alpha-ethynylestradiol


Metastatic Ovarian Serous Adenocarcinoma


Unresectable Ovarian Serous Adenocarcinoma


Unresectable Ovarian High Grade Serous Adenocarcinoma


high grade serous adenocarcinoma of ovary


Refractory Ovarian Low Grade Serous Adenocarcinoma


Locally Advanced Ovarian Serous Adenocarcinoma


low grade serous adenocarcinoma of ovary


Recurrent Ovarian High Grade Serous Adenocarcinoma


Metastatic Ovarian Serous Cystadenocarcinoma


Recurrent Ovarian Low Grade Serous Adenocarcinoma


Advanced Ovarian Serous Cystadenocarcinoma


Locally Advanced Ovarian Serous Cystadenocarcinoma


Refractory Ovarian High Grade Serous Adenocarcinoma


Refractory Ovarian Serous Adenocarcinoma


Metastatic Ovarian High Grade Serous Adenocarcinoma


Recurrent Ovarian Serous Cystadenocarcinoma


Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma


Decreased VLDL cholesterol concentration


mitochondrial complex III deficiency nuclear type 8


negative regulation of methane biosynthetic process from methylamine


negative regulation of dipeptide transmembrane transport


mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis


mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis


mesenchymal cell apoptotic process involved in nephron morphogenesis


mesenchymal cell apoptotic process involved in metanephros development


all-trans retinol 3,4-desaturase activity


Stage IIB Pancreatic Cancer AJCC v6 and v7


fatty acid primary amide biosynthetic process


butyryl-CoA catabolic process to butanol


fatty acid methyl ester biosynthetic process


Abnormal timing of dark-adapted dim flash electroretinogram


Supernormal dark-adapted bright flash electroretinogram b-wave


Delayed canalization of nasolacrimal duct


autosomal recessive pericentral pigmentary retinopathy


Increased vertical cup-to-disc ratio - 0.6


Abnormal amplitude of flash visual evoked potentials


Abnormal best corrected visual acuity test


Congenital stationary night blindness with normal fundus


Congenital hypertrophy of retinal pigment epithelium


Abnormal amplitude of pattern reversal visual evoked potentials


Intraretinal hyporeflective spaces on macular OCT


Grouped congenital hypertrophy of retinal pigment epithelium


Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Abnormal amplitude of light-adapted flicker electroretinogram


Abnormal fundus autofluorescence imaging


Abnormal medial rectus muscle physiology


Foveal photoreceptor outer segment loss on macular OCT


Abnormal Humphrey SITA 30-2 perimetry test


Ultra-low vision with no light perception


Increased vertical cup-to-disc ratio - 0.9


Abnormality of pattern onset/offset visual evoked potentials


Photoreceptor outer segment loss on macular OCT


Abnormal timing of pattern onset/offset visual evoked potentials


Compensatory head tilt to the right shoulder


familial congenital nasolacrimal duct obstruction


Abnormal dark-adapted bright flash electroretinogram


Abnormal amplitude of dark-adapted dim flash electroretinogram


Abnormal inferior rectus muscle physiology


Very severe constriction of peripheral visual field


Chaotic rapid conjugate ocular movements


Patchy atrophy of the retinal pigment epithelium


Abnormal superior oblique muscle physiology


Abnormal foveal morphology on macular OCT


Abnormal automated kinetic perimetry test


Abnormality of the curvature of the cornea


Abnormality of pattern visual evoked potentials


Abnormal central response of multifocal electroretinogram


Age-related posterior subcapsular cataract


Subretinal hyporeflective spaces on macular OCT


Undetectable light- and dark-adapted electroretinogram


Restrictive partial external ophthalmoplegia


Solitary congenital hypertrophy of retinal pigment epithelium


Abnormality morphology of the macular vasculature


Asymmetrical distribution of pattern reversal visual evoked potentials


Increased vertical cup-to-disc ratio - 0.7


Mild constriction of peripheral visual field


Anterior synechiae of the anterior chamber


Abnormal timing of flash visual evoked potentials


Abnormal P50/N95 ratio of pattern electroretinogram


Abnormal static automated perimetry test


Foveal photoreceptor layer loss on macular OCT


Reduced number of corneal endothelial cells


Increased vertical cup-to-disc ratio - 1.0


posterior polymorphous corneal dystrophy 1


Central fundal arteriolar microaneurysms


Abnormal confrontational visual field test


Asymmetrical distribution of flash visual evoked potentials


Abnormal inferior oblique muscle physiology


persistent hyperplastic primary vitreous


Abnormal amplitude of dark-adapted bright flash electroretinogram


Complete congenital stationary night blindness


Hyaloid vascular remnant and retrolental mass


Abnormal dark-adapted dim flash electroretinogram


Abnormal light-adapted single flash electroretinogram


Pigment deposition in the trabecular meshwork


Abnormal amplitude of pattern onset/offset visual evoked potentials


Retinal pigment epithelial loss on macular OCT


Peripheral tractional retinal detachment


Abnormal morphology of the choroidal vasculature


Visual acuity light perception with projection


Abnormal morphology of bony orbit of skull


Juvenile posterior subcapsular lenticular opacities


Abnormal lateral rectus muscle physiology


Decreased Arden ratio of electrooculogram


Abnormal morphology of the conjunctival vasculature


Abnormal vertical rectus muscle physiology


Leakage of dye on fundus fluorescein angiography


Moderate constriction of peripheral visual field


Globe retraction and deviation on abduction


Incomplete congenital stationary night blindness


Abnormal retinal nerve fiber layer morphology


Amyloid deposition in the vitreous humor


Abnormal Humphrey SITA 10-2 perimetry test


Abnormal superior rectus muscle physiology


combined hamartoma of the retina and retinal pigment epithelium


Decreased light- and dark-adapted electroretinogram amplitude


Extension of eyebrows towards upper eyelid


benign concentric annular macular dystrophy


Foveal hyporeflective spaces on macular OCT


Difficulty adjusting to changes in luminance


Abnormal amplitude of light-adapted single flash electroretinogram


Foveal intraretinal hyporeflective spaces on macular OCT


Posterior corneal stroma punctiform multicolored opacities


Abnormality of chorioretinal pigmentation


Abnormal light-adapted flicker electroretinogram


Aplasia/Hypoplasia affecting the anterior segment of the eye


Visual acuity light perception without projection


Optic atrophy from cranial nerve compression


Foveal retinal pigment epithelial loss on macular OCT


Ultra-low vision with retained light projection


congenital fibrosis of extraocular muscles


Abnormal timing of pattern electroretinogram


Central retinal vessel vascular tortuosity


Nonprogressive restrictive external ophthalmoplegia


Eversion of lateral third of lower eyelids


ankyloblepharon filiforme adnatum-cleft palate syndrome


Ultra-low vision with retained light perception


Multiple bilateral congenital hypertrophy of retinal pigment epithelium


Abnormal light- and dark-adapted electroretinogram


Compensatory head tilt to the left shoulder


Abnormal posterior eye segment morphology


Abnormal Vistech contrast sensitivity test


Increased Arden ratio of electrooculogram


Abnormal Humphrey SITA 24-2 perimetry test


Abnormal timing of light-adapted single flash electroretinogram


Abnormal suspensory ligament of lens morphology


Irregular central macular autofluorescence


Abnormal migration of corneal endothelium


Posterior crocodile shagreen of the cornea


Abnormal anterior eye segment morphology


Abnormal distribution of retinal arterioles and venules


Increased vertical cup-to-disc ratio - 0.8


Foveal inner retinal layer loss on macular OCT


Impaired pursuit initiation and maintenance


Abnormality of pattern reversal visual evoked potentials


Foveal subretinal hyporeflective spaces on macular OCT


Increased OCT-measured macular thickness


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave


Small yellow foveal lesion with surrounding gray zone


Abnormal horizontal rectus muscle physiology


Congenital stationary night blindness with abnormal fundus


Severe constriction of peripheral visual field


Abnormal amplitude of pattern electroretinogram


Ultra-low vision with retained motion projection


Abnormal timing of light-adapted flicker electroretinogram


Abnormal retinal morphology on macular OCT


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Subretinal pigment epithelium hemorrhage


Perifoveal ring of hyperautofluorescence


Abnormal paracentral response of multifocal electroretinogram


Abnormal timing of pattern reversal visual evoked potentials


Abnormal timing of dark-adapted bright flash electroretinogram


Glial remnants anterior to the optic disc


Abnormal Pelli Robson contrast sensitivity chart test


Abnormality of the vasculature of the eye


Iridescent posterior subcapsular cataract


Small Intestinal High Grade B-Cell Lymphoma, Not Otherwise Specified


muscle tissue of terminal part of digestive tract


Anti-nucleolus-organizing region antibody positivity


Renal arteriolar lumen organized thrombi


Abnormality of the distal femoral epiphysis


Decreased circulating fetuin A concentration


Abnormal cortical peritubular capillary lumen morphology


Abnormal circulating tyrosine concentration


Subtentorial periventricular white matter hyperdensity


Absence of secondary sex characteristics


Symphalangism affecting the middle phalanges of the toes


Decreased sweating due to autonomic dysfunction


Bracket epiphysis of the distal phalanx of the 5th toe


Increased insulin like growth factor binding protein acid labile subunit concentration


Superficial dermal perivascular inflammatory infiltrate


Proximal/middle symphalangism of 4th toe


Elevated imprint of the transverse sinuses


Large cafe-au-lait macules with irregular margins


Elevated circulating cartilage oligomeric matrix protein concentration


Renal arteriole lymphocyte endoarterial hypercellularity


Aplasia/Hypoplasia of the middle phalanx of the 3rd toe


Abnormal response to short acting pulmonary vasodilator


EEG with irregular generalized spike and wave complexes


Focal impaired awareness sexual automatism seizure


Glomerular basement membrane electron dense deposits


Absent epiphyses of the distal phalanges of the hand


Patchy sclerosis of the distal phalanx of the 3rd finger


Triangular shaped phalanges of the 3rd toe


Stippling of the epiphyses of the 4th finger


Increased anti-alpha-gal IgE antibody level


Cortical thickening of long bone diaphyses


Delayed ossification of vertebral epiphysis


Increased circulating troponin T concentration


Duplication of the distal phalanx of the 4th finger


Abnormal urinary electrolyte concentration


Abnormality of enteric nervous system morphology


Increased anti-parasite IgE antibody level


Fixed splitting of the second heart sound


Abnormal glomerular parietal epithelial cell morphology


Decreased size of nasopharyngeal adenoids


Duplication of the distal phalanx of the thumb


Abnormal tricuspid valve leaflet morphology


Bracket epiphyses of the phalanges of the hand


Bracket epiphysis of the proximal phalanx of the 5th finger


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Anti-multiple nuclear dots antibody positivity


Punctate periventricular T2 hyperintense foci


Partial absence of specific antibody response to tetanus vaccine


Pseudoepiphysis of the proximal phalanx of the hallux


Reversed end-diastolic umbilical artery flow


Stippled calcification of humeral metaphysis


Triangular shaped proximal phalanx of the 3rd finger


Osteolytic defects of the phalanges of the 4th toe


Decreased platelet thromboxane A2 receptor


Abnormal platelet alpha granule secretion


Aplasia/Hypoplasia involving the musculature of the extremities


Decreased specific anti-polysaccharide antibody level


Diffuse swelling of cerebral white matter


Pulmonary interstitial high-resolution computed tomography abnormality


Cellular non-specific interstitial pneumonia


Shortening of all proximal phalanges of the fingers


Bullet-shaped proximal phalanx of the 5th finger


Abnormality of the epiphysis of the proximal phalanx of the 4th finger


Limited mobility of proximal interphalangeal joint


Renal cortical interstitial inflammation


Decreased proportion of central memory CD8-positive, alpha-beta T cells


Bullet-shaped proximal phalanx of the thumb


Systolic anterior motion of the mitral valve


Patchy sclerosis of the proximal phalanx of the thumb


Abnormal small intestinal mucosa morphology


Aplasia cutis congenita over posterior parietal area


Aplasia/Hypoplasia of the palmar creases


Abnormality of intestinal smooth muscle morphology


Wide epiphyseal plates of the upper limbs


Symphalangism affecting the proximal phalanges of the hand


Complete duplication of the phalanges of the 2nd finger


Aplasia/Hypoplasia of the middle phalanges of the hand


Decreased circulating chylomicron concentration


Cone-shaped epiphysis of the middle phalanx of the 5th finger


Decreased circulating hydroxyproline concentration


Abnormal circulating cholesterol concentration


Aplasia/Hypoplasia of the distal phalanx of the 2nd finger


Decreased circulating dehydroepiandrosterone concentration


Cholesterol emboli within interlobular vein lumen


Absent epiphysis of the middle phalanx of the 3rd finger


EEG with photoparoxysmal response grade I


Absent TSH response to thyrotrophin-releasing hormone stimulation test


Thickened glomerular basement membranes with electron dense deposits


Abnormal proportion of class-switched memory B cells


Abnormality of the common coagulation pathway


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count


Mosaic attenuation pattern on pulmonary HRCT


Subluxation of the proximal interphalangeal joint of the little finger


Increased circulating purine concentration


Enlarged epiphysis of the middle phalanx of the 4th toe


Glomerular amyloid subepithelial deposits


Granulomatous arteriolitis of the arteriolar intima/media


Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Abnormality of the epiphyses of the feet


spondyloepimetaphyseal dysplasia, Strudwick type


Abnormal morphology of the proximal phalanx of the 3rd toe


Triangular shaped proximal phalanx of the 2nd finger


Abnormality of the epiphysis of the 5th metacarpal


Segmentally thickened glomerular basement membrane


Glomerular parietal epithelial cell hyperplasia


Abnormal cellular immune system morphology


Focal cognitive seizure with memory impairment


Nodular septal thickening on pulmonary HRCT


Sclerosis of the middle phalanx of the 4th toe


Abnormal autonomic nervous system morphology


Focal cognitive seizure with dissociation


Lytic defects in metaphyses of the upper limbs


Pseudoepiphysis of the proximal phalanx of the 2nd toe


Coarctation of the descending aortic arch


Symphalangism affecting the middle phalanx of the 3rd toe


Increased amyloid beta 40 peptide CSF concentration


Decreased circulating androstenedione concentration


Posterior scalloping of vertebral bodies


seizures-intellectual disability due to hydroxylysinuria syndrome


Aplasia/hypoplasia of the proximal phalanx of the 3rd toe


Increased circulating arachidonic acid concentration


Right aortic arch with retroesophageal diverticulum of Kommerell


Abnormal large intestinal mucosa morphology


Cortical radial artery medial/intimal arteriitis


Increased pulmonary capillary wedge pressure


Focal hypointensity of cerebral white matter on MRI


Elevated circulating hexacosanoic acid concentration


Focal aware emotional seizure with laughing


Bracket epiphysis of the middle phalanx of the 3rd finger


Enlarged epiphysis of the distal phalanx of the 3rd toe


High nonceruloplasmin-bound serum copper


Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells


Left superior vena cava draining to coronary sinus


Neonatal bilateral symmetric myoclonic seizure


Complete duplication of the proximal phalanx of the 4th toe


EEG with generalized polymorphic epileptiform discharges


hypothyroidism, congenital, nongoitrous, 2


Anti-neurofascin 186 antibody positivity


Anomalous origin of the left anterior descending artery from the pulmonary artery


Abnormal liver function tests during pregnancy


Duplication of the phalanges of the 2nd toe


Focal impaired awareness sensory seizure with auditory features


Stippling of the epiphysis of the proximal phalanx of the 3rd finger


central nervous system primitive neuroectodermal neoplasm


Abnormality of the epiphyses of the 5th finger


Abnormality of the internal auditory canal


Medullary peritubular capillary erythrocyte congestion


Bilateral symmetric neonatal sequential seizure


EEG with spike-wave complexes (2.5-3.5 Hz)


Stippling of the epiphyses of the proximal phalanges of the hand


Focal cognitive seizure with deja vu/jamais vu


Decreased circulating gonadotropin concentration


Adult onset sensorineural hearing impairment


Absent epiphysis of the proximal phalanx of the 3rd finger


Cortical radial artery intraluminal organized thrombi


Focal epileptiform discharges with limited propagation to contralateral hemisphere


Abnormality of the first metatarsal bone


Decreased motor nerve conduction velocity


Elevated urinary N,N-dimethylglycine level


Osteolytic defects of the proximal phalanx of the 2nd toe


Disseminated nontuberculous mycobacterial infection


Abnormal synaptic transmission at the neuromuscular junction


Contracture of the distal interphalangeal joint of the 3rd finger


Cone-shaped epiphysis of the proximal phalanx of the hallux


Shortening of all distal phalanges of the toes


Ivory epiphysis of the proximal phalanx of the 4th finger


supratentorial primitive neuroectodermal tumor


Aplasia cutis congenita over the scalp vertex


EEG with parietal epileptiform discharges


Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration


Triangular shaped phalanges of the 2nd finger


Focal aware sensory seizure with vestibular features


Abnormality of the distal phalanx of the 5th toe


Bullet-shaped proximal phalanx of the 4th toe


Pseudoepiphyses of the proximal phalanges of the hand


Sclerosis of the proximal phalanx of the 4th toe


Elevated urinary monocarboxylic acid level


Enlarged epiphysis of the proximal phalanx of the 3rd toe


Fragmentation of the epiphyses of the distal phalanges of the hand


Elevated red cell adenosine deaminase level


Supracardiac total anomalous pulmonary venous connection


Reduced forced expiratory volume in one second


Reduced circulating growth hormone concentration


Gonadal dysgenesis with female appearance, male


Anemia due to reduced life span of red cells


Decreased pre-bronchodilator forced expiratory flow 25-75%


Cortical thickening of the forearm bones


Passive dorsiflexion of the 5th finger more than 90 degrees


Chronic disseminated intravascular coagulation


Abnormal fetal cardiovascular physiology


Abnormal proportion of CD4-positive, alpha-beta memory T cells


Respiratory insufficiency due to defective ciliary clearance


Intermediate atrioventricular canal defect


Tetralogy of Fallot with pulmonary atresia


Impaired renal tubular reabsorption of magnesium


Triangular epiphysis of the distal phalanx of the 5th finger


Absent epiphysis of the middle phalanx of the 5th toe


Absent epiphysis of the distal phalanx of the 5th toe


Decreased CD69 upregulation upon TCR activation


Complete duplication of the proximal phalanx of the hallux


Bilateral tonic-clonic seizure on awakening


Glomerular capillary wall duplication with cellular interposition


Abnormally low T cell receptor excision circle level


Complete duplication of the 1st metatarsal


Stippling of the epiphyses of the 3rd toe


Partial diaphragmatic absence of pericardium


Abnormality of the spinocerebellar tracts


Abnormal response to gonadotropin-releasing hormone stimulation test


Triangular shaped middle phalanx of the 2nd finger


Ivory epiphysis of the distal phalanx of the 2nd toe


Focal impaired awareness sensory seizure with vestibular features


Weakness due to upper motor neuron dysfunction


Renal juxtaglomerular cell hypertrophy/hyperplasia


Proximal humeral metaphyseal irregularity


Patchy sclerosis of the middle phalanx of the 5th toe


Increased urinary type 1 collagen N-terminal telopeptide level


Focal cognitive seizure with dyslexia/alexia


Increased urinary non-proteinogenic amino acid level


Patchy sclerosis of the proximal phalanx of the 4th finger


Irregular epiphysis of the middle phalanx of the 5th toe


Increased proportion of unswitched memory B cells


transient hypogammaglobulinemia of infancy


Small epiphysis of the distal phalanx of the 5th toe


Ivory epiphysis of the distal phalanx of the 3rd finger


Osteolytic defects of the proximal phalanx of the 5th toe


Abnormal urine isobutyrylglycine concentration


Decreased uridine diphosphate glucose-4-epimerase level in plasma


Osteolytic defects of the distal phalanx of the 3rd finger


Reduced brain gamma-aminobutyric acid level by MRS


Calcification of the interosseus membrane of the forearm


Patchy sclerosis of the middle phalanx of the 4th toe


Sclerosis of the proximal phalanx of the thumb


Macrodontia of permanent maxillary central incisor


Prolonged somatosensory evoked potentials


Increased circulating free fatty acid level


Duplication of the proximal phalanx of the 5th toe


Cone-shaped epiphysis of the 1st metatarsal


Irregular epiphysis of the distal phalanx of the 2nd toe


Partial duplication of the distal phalanx of the 5th finger


Arcuate vein intimal/medial myxomatous degeneration


Neonatal electro-clinical seizure with behavior arrest


Sclerosis of the distal phalanx of the 4th toe


Aplasia/Hypoplasia of the phalanges of the 2nd toe


Elevated circulating dodecanoylcarnitine concentration


Abnormal circulating sarcosine concentration


Diffuse reticular or finely nodular infiltrations


Abnormal periventricular white matter morphology


Abnormal ossification of the trapezoid bone


Aplasia of the distal phalanx of the 4th toe


Fragmentation of the epiphyses of the 5th toe


Bracket epiphysis of the distal phalanx of the 4th toe


Facial telangiectasia in butterfly midface distribution


Premature fusion of the radial epiphyseal plates


Tapering pointed ends of distal finger phalanges


Focal aware perseverative automatism seizure


Cone-shaped epiphyses of the phalanges of the hand


Abnormal ulnar styloid process morphology


Focal impaired awareness cognitive seizure with dyslexia/alexia


Abnormal response to endocrine stimulation test


Aplasia/Hypoplasia of the phalanges of the toes


Abnormal connection of the cardiac segments


atrial septal defect, sinus venosus type


isolated congenital growth hormone deficiency


Glomerular basement membrane lamellation


Absent dorsal skin creases over affected joints


Sclerosis with transverse striations in metaphyses of the upper limbs


Enlarged epiphysis of the middle phalanx of the 3rd toe


Abnormal circulating prostaglandin circulation


Sclerotic foci of metaphyses of the elbow


Apneic episodes precipitated by illness, fatigue, stress


Underdeveloped inferior crus of antihelix


Irregular epiphysis of the proximal phalanx of the 4th toe


Increased immunoglobulin level in body fluid


Abnormality of urine catecholamine level


Reduced TSH response to thyrotrophin-releasing hormone stimulation test


Abnormality of the third metatarsal bone


Ivory epiphysis of the middle phalanx of the 4th toe


Prolonged bleeding after dental extraction


Increased circulating 17 hydroxypregnenolone concentration


Partial duplication of the proximal phalanx of the 2nd finger


Absent epiphysis of the distal phalanx of the 2nd finger


Increased red cell hemolysis by shear stress


Abnormality of the epiphysis of the middle phalanx of the 2nd toe


Abnormal greater palatine artery morphology


Absent or minimally ossified vertebral bodies


Decreased thyroid-stimulating hormone level


Abnormal circulating acetylcarnitine concentration


Pseudoepiphyses of the phalanges of the hand


Renal interstitial neutrophil infiltration


Abnormality of the epiphysis of the distal phalanx of the 5th toe


Sclerosis of the proximal phalanx of the 2nd toe


Small epiphysis of the middle phalanx of the 2nd toe


Venous varicosities of celiac and mesenteric vessels


Complete heart block with broad QRS complexes


Abnormal circulating glutamine family amino acid concentration


tubulointerstitial nephritis and uveitis syndrome


Absent epiphysis of the distal phalanx of the 3rd finger


Osteolytic defects of the proximal phalanx of the 3rd toe


Stippling of the epiphysis of the middle phalanx of the 3rd finger


Swelling of proximal interphalangeal joints


Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


Abnormality of the epiphysis of the proximal phalanx of the thumb


Partial duplication of phalanx of the 2nd toe


Bullet-shaped middle phalanx of the 4th finger


Single ventricle of indeterminate morphology


Decreased circulating heparan sulfate level


Perivascular pre-capillary pulmonary artery inflammation


Irregular ossification of the humeral epiphyses


Decreased serum testosterone concentration


Decreased level of platelet-activating factor


Inability to walk by childhood/adolescence


Aplasia/Hypoplasia of the 3rd metacarpal


Perivascular myocardial immune cell infiltration


Focal impaired awareness bilateral motor seizure


Focal impaired awareness hemifacial clonic seizure


Anti-mitochondrial M2 antibody positivity


Severely reduced left ventricular ejection fraction


Fragmentation of the epiphysis of the proximal phalanx of the hallux


Abnormal morphology of left ventricular trabeculae


Self-mutilation of tongue and lips due to involuntary movements


Impaired ability to form peer relationships


Osteolytic defects of the middle phalanges of the hand


Sclerosis of the distal phalanx of the 2nd toe


Abnormal morphology of the proximal phalanx of the hallux


Small epiphysis of the middle phalanx of the 5th toe


Anti-epidermal transglutaminase antibody positivity


1-5 finger complete cutaneous syndactyly


Ivory epiphysis of the proximal phalanx of the thumb


Abnormal von Willebrand factor multimer distribution


Partial fusion of proximal row of carpal bones


Abnormal urinary non-proteinogenic amino acid level


Increased circulating prealbumin concentration


Decreased proportion of CD4-positive helper T cells


Elevated circulating alpha-aminobutyric acid concentration


Stippled calcification proximal humeral epiphyses


Bullet-shaped proximal phalanx of the 3rd toe


Medullary peritubular capillary intraluminal thrombi


Metaphyseal cupping of proximal phalanges


Partial absence of the septum pellucidum


Elevated plasma branched chain amino acids


Hypoplasia of maxilla relative to mandible


Abnormal ossification involving the femoral head and neck


Abnormality of the distal humeral epiphysis


Symphalangism affecting the distal phalanx of the 5th toe


Abnormal circulating carbohydrate concentration


Increased level of N-acetylneuraminic acid in urine


Non-caseating epithelioid cell granulomatosis


Cone-shaped epiphysis of the distal phalanx of the thumb


Abnormal circulating nitrogen compound concentration


Proximal/middle symphalangism of 2nd toe


Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger


Confetti hypopigmentation pattern of lower leg skin


Focal EEG discharges with propagation to ipsilateral hemisphere


Abnormal radioactive iodine uptake test result


Focal autonomic seizure with pallor/flushing


Contracture of the metacarpophalangeal joint of the 2nd finger


Abnormality of the epiphyses of the 2nd finger


Pigmented micronodular adrenocortical disease


Tetralogy of Fallot with pulmonary stenosis


Abnormal size of nasopharyngeal adenoids


Abnormal cortical peritubular capillary morphology


Elevated circulating transferrin concentration


Irregular epiphysis of the middle phalanx of the 4th toe


Contracture of the metacarpophalangeal joint of the 3rd finger


Ground glass opacity of humeral diaphysis


Hyperchromasia of renal tubular epithelial cells


Contracture of the distal interphalangeal joint of the 4th finger


Bullet-shaped phalanges of the 5th finger


Renal arteriole leukocytic endoarterial hypercellularity


Bracket epiphysis of the distal phalanx of the thumb


Triangular epiphysis of the distal phalanx of the 2nd toe


Abnormal circulating adrenocorticotropin concentration


Sclerosis of metaphyses of the upper limbs


Abnormal proportion of CD4+ central memory cells


Triangular shaped phalanges of the 5th finger


Stippling of the epiphysis of the proximal phalanx of the 5th toe


Enlarged epiphysis of the proximal phalanx of the 4th finger


Aplasia of the middle phalanx of the hand


White mater abnormalities in the posterior periventricular region


Arcuate artery intima/media coagulative necrosis


Abnormal proportion of naive CD8 T cells


Atrophy/Degeneration involving the corticospinal tracts


Elevated alkaline phosphatase of hepatic origin


Patchy sclerosis of proximal toe phalanx


Focal impaired awareness cognitive seizure with left-right confusion


Abnormality of the humeral epiphyseal plate


Starry sky appearance on hepatic sonography


Abnormal circulating leucine concentration


Abnormal proximal ulnar epiphysis morphology


Anti-threonyl-tRNA synthetase antibody positivity


Osteolytic defects of the phalanges of the toes


Abnormal brain FDG positron emission tomography


Sclerosis of the distal phalanx of the thumb


idiopathic spontaneous coronary artery dissection


Increased CSF alpha-aminobutyrate concentration


Abnormality of enteric ganglion morphology


Bracket epiphysis of the proximal phalanx of the 2nd toe


Anterior predominant thick cortex pachygyria


Pseudoepiphysis of the proximal phalanx of the 5th toe


Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger


Decreased movement range in interphalangeal joints


Contractures of the proximal interphalangeal joint of the 5th toe


Abnormality of the autonomic nervous system


Blood pressure substantially higher in arms than legs


Increased urinary O-linked sialopeptides


Abnormality of the fontanelles or cranial sutures


Abnormality of the epiphysis of the 3rd metacarpal


Increased proportion of CD4+CD25+ regulatory T cells


Renal interstitial calcium phosphate deposits


Decreased proportion of CD8-positive, alpha-beta memory T cells


Increased circulating beta-2-microglobulin level


Linear arrays of macular hyperkeratoses in flexural areas


Increased circulating N-Acetylaspartic acid concentration


Stippling of the epiphysis of the proximal phalanx of the 4th finger


Fragmentation of the epiphysis of the proximal phalanx of the 5th finger


Anti-plasminogen binding peptide antibody positivity


Shortening of all middle phalanges of the toes


Abnormal portal venous system morphology


Increased ratio of VWF propeptide to VWF antigen


Complete or near-complete absence of specific antibody response to tetanus vaccine


Unbalanced atrioventricular canal defect


Irregular epiphysis of the distal phalanx of the 3rd toe


Renal interstitial globotriaosylceramide inclusions


Regional left ventricular wall motion abnormality


Abnormal amyloid beta 42 peptide CSF concentration


Anti-liver cytosolic antigen type 1 antibody positivity


Decreased proportion of CD8-positive T cells


Elevated bronchoalveolar lavage fluid lymphocyte proportion


Fractured distal phalanx of manual digit 5


Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio


Substantia nigra hypointensity on susceptibility-weighted imaging


Focal impaired awareness autonomic seizure


Focal aware cognitive seizure with expressive dysphasia/aphasia


Abnormality of umbilical vein blood flow


Neonatal electro-clinical non-motor seizure


EEG with hyperventilation-induced generalized epileptiform discharges


Decreased proportion of immature B cells


Mild malformation of cortical development


Impaired ristocetin cofactor assay activity


Elevated tissue non-specific alkaline phosphatase


Abnormal proportion of CD8-positive, alpha-beta memory T cells


Increased proportion autoreactive unresponsive CD21-/low B cells


Abnormal mean corpuscular hemoglobin concentration


Abnormal gastrointestinal vascular morphology


Abnormal glucose-6-phosphate dehydrogenase level in tissue


Atrophy/Degeneration involving the spinal cord


Abnormality of permanent molar morphology


Abnormal platelet membrane protein expression


Absent in utero ossification of vertebral bodies


Aplasia of the middle phalanges of the toes


Abnormality of the middle phalanx of the 2nd finger


Triangular epiphysis of the proximal phalanx of the thumb


Osteolytic defects of the distal phalanx of the 2nd toe


Bullet-shaped phalanges of the 2nd finger


Elevated circulating sitosterol concentration


Absence of CD4-positive, CD25-positive regulatory T cells


Triangular shaped proximal phalanx of the 4th finger


Abnormal tricuspid valve annulus morphology


Bullet-shaped distal phalanx of the hallux


Decreased specific antibody response to protein-conjugated polysaccharide vaccine


Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration


Increased groin pigmentation with raindrop depigmentation


Impaired renal tubular reabsorption of sodium


Increased proportion of central memory CD4-positive, alpha-beta T cells


Fractured middle phalanx of manual digit 5


Renal interstitial eosinophil infiltration


Decreased circulating copper concentration


Osteolytic defect of the distal phalanx of the thumb


Total absence von Willebrand factor multimers


Increased proportion of immature gamma-delta T cells


Abnormalities of placenta or umbilical cord


Arcuate vein medial/intimal coagulative necrosis


Absent epiphysis of the proximal phalanx of the 3rd toe


Pachygyria with 5-10 mm cortical thickness


Anomalous muscle bundle of the right ventricle


Abnormal erythroid lineage cell morphology


Thyroid defect in oxidation and organification of iodide


Renal arteriolar lumen cholesterol emboli


Decreased proportion of CD8-positive, alpha-beta TEMRA T cells


Focal impaired awareness motor seizure with dystonia


Abnormal circulating dehydroepiandrosterone concentration


Small epiphysis of the middle phalanx of the 2nd finger


Fragmentation of the epiphyses of the 2nd toe


Extracranial internal carotid artery dissection


Bullet-shaped middle phalanx of the 3rd toe


Neonatal electro-clinical autonomic seizure


Triangular epiphyses of the middle phalanges of the hand


Abnormal morphology of the cortex of the humerus


Anti-SUMO-activating enzyme subunit 1 antibody positivity


Abnormal metacarpophalangeal joint morphology


Symphalangism affecting the phalanges of the hand


Fragmentation of the epiphyses of the 5th finger


Elevated circulating apolipoprotein A-II concentration


Arcuate artery intima/media liquefactive necrosis


Osteolytic defects of the phalanges of the 5th finger


Abnormality of the epiphyses of the 3rd toe


Progressive extrapyramidal movement disorder


Combined pre- and post-capillary pulmonary hypertension


Multifocal cerebral white matter abnormalities


Atrophy/Degeneration affecting the brainstem


Abnormality of the epiphysis of the proximal phalanx of the hallux


Increased anti-plant based food allergen IgE antibody level


Grade II preterm intraventricular hemorrhage


Increased plasma vitamin K epoxide after vitamin K supplementation


Decreased pituitary glycoprotein hormone alpha subunit level


Focal aware sensory seizure with hot-cold sensations


Elevated bronchoalveolar lavage fluid eosinophil proportion


Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia


Apically displaced anterolateral papillary muscle


Increased circulating procalcitonin concentration


Increased non-HDL cholesterol concentration


Triangular shaped phalanges of the 2nd toe


Favorable response of weakness to acetylcholine esterase inhibitors


Increased sulfur amino acid level in urine


Osteolytic defects of the proximal phalanx of the 2nd finger


Focal aware cognitive seizure with forced thinking


Neonatal seizure with electrographic correlate


Bracket epiphysis of the distal phalanx of the 2nd toe


Aplasia of the proximal phalanx of the 3rd finger


Triangular shaped phalanges of the 3rd finger


Abnormal morphology of the olfactory bulb


Impaired histidine renal tubular absorption


Normal density transverse bands in metaphyses of the upper limbs


Abnormal pulmonary valve cusp morphology


adnexal spiradenoma/cylindroma of a sweat gland


Osteolytic defects of the middle phalanx of the 3rd toe


Anti-phosphatidyl serine antibody positivity


Proximal/middle symphalangism of 4th finger


Absent epiphysis of the middle phalanx of the 2nd finger


Focal necrosis of right ventricular muscle cells


Abnormal arcuate artery intima/media morphology


EEG with central epileptiform discharges


Symphalangism affecting the distal phalanx of the hallux


Increased circulating androstenedione concentration


Fragmentation of the epiphysis of the proximal phalanx of the 5th toe


Aplasia/Hypoplasia of the phalanges of the 3rd toe


Symphalangism of middle phalanx of 3rd finger


Abnormal sensory nerve conduction velocity


Increased bone density with cystic changes


Osteolytic defects of the distal phalanges of the hand


Partial duplication of the distal phalanx of the 3rd finger


Agenesis of primary maxillary central incisor


Curved linear dimple below the lower lip


Abnormality of the distal phalanx of the 5th finger


Increased esterified to free carnitine ratio


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Increased urine proteinogenic amino acid derivative level


Benign neoplasm of the central nervous system


Focal sensory seizure with gustatory features


Contracture of the distal interphalangeal joint of the 3rd toe


Abnormal circulating non-proteinogenic amino acid concentration


Elevated circulating apolipoprotein B concentration


Patchy sclerosis of the proximal phalanx of the 3rd finger


Abnormality of the vestibulocochlear nerve


Patchy sclerosis of the middle phalanx of the 5th finger


Abnormal umbilical artery doppler waveform during pregnancy


Abnormal circulating short-chain fatty-acid concentration


Abnormal serum insulin-like growth factor 1 level


Abnormal glomerular capillary morphology


Axillary and groin hyperpigmentation and hypopigmentation


Renal interstitial xanthogranulomatous inflammation


EEG with centrotemporal focal spike waves


Modic type II vertebral endplate changes


Progressive pulmonary function impairment


Decreased circulating corticosterone level


Abnormal circulating ornithine concentration


Cone-shaped epiphysis of the proximal phalanx of the 4th toe


Elevated circulating propionylcarnitine concentration


Duplication of the middle phalanx of the 2nd finger


Contracture of the interphalangeal joint of the hallux


Decrease in high molecular weight von Willebrand factor Multimers


Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine


Elevated proportion of CD4+ effector memory T cells


Intermittent generalized erythematous papular rash


Easily subluxated first metacarpophalangeal joints


Absent epiphysis of the middle phalanx of the 3rd toe


Focal aware autonomic seizure with piloerection


Triangular epiphysis of the middle phalanx of the 5th toe


Decreased proportion of CD4-positive T cells


Fatty replacement of ventricular myocardial tissue


Aplasia of the distal phalanx of the 5th finger


Pseudoepiphysis of the middle phalanx of the 5th finger


Abnormal morphology of myocardial trabeculae


Small epiphysis of the middle phalanx of the 4th toe


Abnormal proportion of effector memory CD8-positive, alpha-beta T cells


Focal impaired awareness autonomic seizure with erection


Abnormal glomerular endothelial cell morphology


Focal aware cognitive seizure with receptive dysphasia/aphasia


Low alkaline phosphatase of renal origin


Decreased circulating A-type natriuretic peptide level


Focal cognitive seizure with forced thinking


Lymphocytic infiltration of the colorectal mucosa


Decreased platelet alpha-2A-adrenergic receptor


Neonatal bilateral symmetric tonic seizure


Bracket epiphysis of the middle phalanx of the 5th finger


Focal substantia nigra T2 hyperintensity


Triangular epiphyses of the proximal phalanges of the hand


Abnormal urine alpha-ketoglutarate concentration


Abnormal glossopharyngeal nerve morphology


Abnormal arcuate artery lumen morphology


Triangular epiphysis of the middle phalanx of the 3rd toe


central nervous system infectious disorder


Proximal finger joint hyperextensibility


Ivory epiphysis of the distal phalanx of the 4th toe


Osteolytic defects of the middle phalanx of the 2nd toe


Abnormal circulating insulin concentration


Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis


Focal aware emotional seizure with fear/anxiety/panic


Renal arteriole foam cell endoarterial hypercellularity


Abnormality of the epiphysis of the distal phalanx of the hallux


Aplasia/hypoplasia of proximal toe phalanx


Increased level of myristic acid in serum


Focal aware head nodding automatism seizure


Confluent hyperintensity of cerebral white matter on MRI


Bracket epiphysis of the proximal phalanx of the thumb


Abnormality of the distal phalanges of the toes


Focal impaired awareness autonomic seizure with piloerection


Anomalous origin of right coronary artery from the pulmonary artery


Fragmentation of the epiphysis of the distal phalanx of the 3rd toe


Agenesis of permanent mandibular central incisor


Symphalangism affecting the phalanges of the 3rd toe


Increased aromatic amino acid level in urine


Osteolytic defects of the phalanges of the 2nd finger


Bullet-shaped distal phalanx of the thumb


Abnormality of the epiphyses of the distal phalanx of finger


Enlarged epiphysis of the distal phalanx of the 3rd finger


Reduced left ventricular endsystolic diameter


Fatiguable weakness of proximal limb muscles


Abnormal left ventricular endsystolic diameter


Early progressive calcific cardiac valvular disease


Irregular epiphysis of the 1st metatarsal


Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


Anti-phosphatidic acid antibody positivity


Cone-shaped epiphysis of the middle phalanx of the 5th toe


Soft-tissue ossification around the shoulders


Anomalous origin of the right common carotid artery from the aorta


Stippling of the epiphysis of the proximal phalanx of the 2nd toe


Aplasia/Hypoplasia of the fallopian tube


Sclerosis of the distal phalanx of the 4th finger


Abnormal subcutaneous fat tissue distribution


Increased urinary transitional epithelial cell count


Neonatal electro-clinical myoclonic seizure


Multiple muscular ventricular septal defects


Irregular epiphysis of the distal phalanx of the 5th finger


Oligoclonal elevation of circulating IgG


Elevated CSF chitinase-3-like protein 1 level